{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA099889",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 88,
          "referenceAllele": "I",
          "start": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "NP_000362.1:p.Ile88Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA256837",
          "hgvs": "NM_000371.3:c.262A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA402157008",
          "hgvs": "NM_000371.3:c.262A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146915"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28485[alleleid]",
        "alleleId": 28485,
        "preferredName": "NM_000371.4(TTR):c.262A>T (p.Ile88Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4821013[alleleid]",
        "alleleId": 4821013,
        "preferredName": "NM_000371.4(TTR):c.262A>C (p.Ile88Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13446",
        "RCV": [
          "RCV000014388",
          "RCV001288934",
          "RCV002476966",
          "RCV002426503"
        ],
        "variationId": 13446
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4710457",
        "RCV": [
          "RCV006510183"
        ],
        "variationId": 4710457
      }
    ]
  },
  "type": "amino-acid"
}